遺伝性平滑筋腫症−腎細胞がん症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000143.4(FH):c.134del (p.Ala45fs)	FH	Pathogenic	1	241680615	241680615	TG	T	criteria provided, single submitter	ClinGen:CA645369179
Deletion	NM_000143.4(FH):c.879del (p.Ala294fs)	FH	Pathogenic	1	241669328	241669328	CA	C	criteria provided, single submitter	ClinGen:CA645369174
single nucleotide variant	NM_000143.4(FH):c.1250T>G (p.Leu417Ter)	FH	Likely pathogenic	1	241663877	241663877	A	C	criteria provided, single submitter	ClinGen:CA345436902
single nucleotide variant	NM_000143.4(FH):c.555+5G>C	FH	Likely pathogenic	1	241675262	241675262	C	G	criteria provided, single submitter	ClinGen:CA645372523
single nucleotide variant	NM_000143.4(FH):c.1486C>T (p.Gln496Ter)	FH	Likely pathogenic	1	241661175	241661175	G	A	criteria provided, single submitter	ClinGen:CA345450387
Deletion	NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)	FH	Pathogenic/Likely pathogenic	1	241669397	241669398	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657000
single nucleotide variant	NM_000143.4(FH):c.555+1G>A	FH	Pathogenic/Likely pathogenic	1	241675266	241675266	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345439814
single nucleotide variant	NM_000143.4(FH):c.700A>C (p.Thr234Pro)	FH	Likely pathogenic	1	241671941	241671941	T	G	criteria provided, single submitter	ClinGen:CA345439217
single nucleotide variant	NM_000143.4(FH):c.634C>T (p.Gln212Ter)	FH	Pathogenic	1	241672007	241672007	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345439351
Duplication	NM_000143.4(FH):c.1251dup (p.His418fs)	FH	Pathogenic	1	241663875	241663876	G	GT	criteria provided, single submitter	ClinGen:CA658656998